Holub M, Bodamer O A, Item C, Mühl A, Pollak A, Stöckler-Ipsiroglu S
Department of Neonatology and Paediatric Intensive Care Medicine, University Hospital Vienna, Austria.
Acta Paediatr. 2005 Jan;94(1):48-52. doi: 10.1111/j.1651-2227.2005.tb01787.x.
Fatty acid beta-oxidation defects comprise a heterogeneous group of disorders that may precipitate acute life threatening metabolic crises particularly during catabolic episodes. Several studies have demonstrated a possible association between fatty acid beta-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and severe pregnancy complications. However, the precise percentage of women with haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome associated with foetal fatty acid beta-oxidation defects is not known.
We carried out a multicentre retrospective study on 88 infants, born to women with HELLP syndrome. Acylcarnitine profiles from blood dried on filter paper cards were analysed by tandem mass spectrometry for the diagnosis of fatty acid beta-oxidation defects. In addition, we screened for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation using a standard restriction fragment length polymorphism polymerase chain reaction method.
None of the infants studied carried the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation. There was no evidence of fatty acid beta-oxidation defects, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, as expected by unremarkable acylcarnitine profiles, while three infants with fatty acid beta-oxidation defects were diagnosed in the control group.
Neither foetal long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, including heterozygosity for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation, nor fatty acid beta-oxidation defects in general are a major risk factor for HELLP syndrome in Austria.
脂肪酸β氧化缺陷是一组异质性疾病，可能引发危及生命的急性代谢危机，尤其是在分解代谢期。多项研究表明，脂肪酸β氧化缺陷（包括长链3-羟基酰基辅酶A脱氢酶缺乏症）与严重的妊娠并发症之间可能存在关联。然而，与胎儿脂肪酸β氧化缺陷相关的溶血、肝酶升高、血小板减少（HELLP）综合征女性的确切比例尚不清楚。
我们对88例患有HELLP综合征的女性所生婴儿进行了一项多中心回顾性研究。通过串联质谱分析滤纸卡片上干燥血液中的酰基肉碱谱，以诊断脂肪酸β氧化缺陷。此外，我们使用标准的限制性片段长度多态性聚合酶链反应方法筛查常见的长链3-羟基酰基辅酶A脱氢酶缺乏症突变。
所研究的婴儿均未携带常见的长链3-羟基酰基辅酶A脱氢酶缺乏症突变。正如预期的那样，酰基肉碱谱无异常，没有证据表明存在脂肪酸β氧化缺陷，包括长链3-羟基酰基辅酶A脱氢酶缺乏症，而在对照组中诊断出3例患有脂肪酸β氧化缺陷的婴儿。
在奥地利，胎儿长链3-羟基酰基辅酶A脱氢酶缺乏症（包括常见长链3-羟基酰基辅酶A脱氢酶缺乏症突变的杂合子）以及一般的脂肪酸β氧化缺陷均不是HELLP综合征的主要危险因素。
